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Infectious Disease Reports
Volume 5
Issue 1
10.4081/idr.2013.e6
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Infectious Disease Reports is published by MDPI from Volume 12 Issue 3 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Hyperimmunoglobulin E Syndrome Presenting as Osteogenesis Imperfecta in a 3 Year Old Child

by
Stephen Gorgas
1,*,
Walid Abuhammour
2 and
R. Alexander Blackwood
1
1
Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, MI, USA
2
Department of Pediatrics, Hurley Medical Center, Flint, MI, USA
*
Author to whom correspondence should be addressed.
Infect. Dis. Rep. 2013, 5(1), e6; https://doi.org/10.4081/idr.2013.e6
Submission received: 30 November 2012 / Revised: 12 March 2013 / Accepted: 19 March 2013 / Published: 3 June 2013

Abstract

We present a case of hyperimmunoglobulin E (hyper-IgE) syndrome in a three year old boy. There are many pitfalls in diagnosing this disease in the very young population, mainly due to the ambiguity of some diagnostic criteria in this population. Recognizing this syndrome early in life can potentially be very beneficial to the patients involved and the medical system as a whole. Early diagnosis can lead to fewer diagnostic tests, fewer referrals, and more focused exams, thus potentially reducing medical cost while also reducing the number of serious infections later in life, including those which are potentially fatal. Additionally, a well-known association between lymphoma and hyper-IgE syndrome has been established; while no recommendations are currently in place for screening, early diagnosis could help medical providers have a higher threshold for diagnosis of this disease.
Keywords: hyper-IgE syndrome; recurrent fractures; recurrent infections; rare diseases hyper-IgE syndrome; recurrent fractures; recurrent infections; rare diseases

Share and Cite

MDPI and ACS Style

Gorgas, S.; Abuhammour, W.; Blackwood, R.A. Hyperimmunoglobulin E Syndrome Presenting as Osteogenesis Imperfecta in a 3 Year Old Child. Infect. Dis. Rep. 2013, 5, e6. https://doi.org/10.4081/idr.2013.e6

AMA Style

Gorgas S, Abuhammour W, Blackwood RA. Hyperimmunoglobulin E Syndrome Presenting as Osteogenesis Imperfecta in a 3 Year Old Child. Infectious Disease Reports. 2013; 5(1):e6. https://doi.org/10.4081/idr.2013.e6

Chicago/Turabian Style

Gorgas, Stephen, Walid Abuhammour, and R. Alexander Blackwood. 2013. "Hyperimmunoglobulin E Syndrome Presenting as Osteogenesis Imperfecta in a 3 Year Old Child" Infectious Disease Reports 5, no. 1: e6. https://doi.org/10.4081/idr.2013.e6

APA Style

Gorgas, S., Abuhammour, W., & Blackwood, R. A. (2013). Hyperimmunoglobulin E Syndrome Presenting as Osteogenesis Imperfecta in a 3 Year Old Child. Infectious Disease Reports, 5(1), e6. https://doi.org/10.4081/idr.2013.e6

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